Asunto(s)
Demencia , Hipoglucemiantes , Metformina , Convulsiones , Deficiencia de Vitamina B 12 , Humanos , Deficiencia de Vitamina B 12/inducido químicamente , Deficiencia de Vitamina B 12/diagnóstico , Metformina/efectos adversos , Metformina/uso terapéutico , Demencia/inducido químicamente , Convulsiones/inducido químicamente , Hipoglucemiantes/efectos adversos , Hipoglucemiantes/uso terapéutico , Femenino , Anciano , MasculinoRESUMEN
BACKGROUND: Moyamoya angiopathy is a rare cerebral vasculopathy and an underdiagnosed cause of arterial ischemic stroke in children. We aim to report the clinical and radiological presentations in a Tunisian pediatric cohort. METHODS: We identified moyamoya angiopathy in pediatric patients managed at the Child Neurology Department of Hedi Chaker Sfax University Hospital between 2008 and 2020 and reviewed their clinical and radiological data as well as their evolutionary profile. RESULTS: We collected 14 patients with median age 40.6 months and a female predominance (sex ratio of 0.75). An arterial ischemic stroke (AIS) revealed the disease in all patients, with the major symptom being a motor deficit. Symptoms related to a transient ischemic attack before the diagnostic consultation were reported in four patients. Carotid territory was, clinically and radiologically, the most frequently involved. Brain magnetic resonance imaging with angiography was performed in 12 patients confirming the diagnosis by revealing the development of collateral vessels. All the investigations concluded to moyamoya disease in 57.2% and moyamoya syndrome in 42.8%. The latter was related to Down syndrome in five patients and neurofibromatosis type 1 in one patient. With a mean follow-up of 2.35 years, two patients had at least two more AISs during the first two years following diagnosis and 42.8% of patients were diagnosed with vascular or poststroke epilepsy. Full recovery was noted in 14.3% of cases. CONCLUSIONS: Moyamoya angiopathy in children is a serious condition that needs to be recognized due to the high risk of recurrent ischemic strokes.
Asunto(s)
Ataque Isquémico Transitorio , Accidente Cerebrovascular Isquémico , Enfermedad de Moyamoya , Accidente Cerebrovascular , Niño , Humanos , Femenino , Preescolar , Masculino , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/diagnóstico por imagen , Accidente Cerebrovascular Isquémico/complicaciones , Ataque Isquémico Transitorio/diagnóstico por imagen , Ataque Isquémico Transitorio/etiología , Encéfalo/patología , Imagen por Resonancia Magnética , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/complicacionesRESUMEN
Dysferlinopathy is a rare group of hereditary muscular dystrophy with an autosomal recessive mode of inheritance caused by a mutation in the DYSF gene. It encodes for the dysferlin protein, which has a crucial role in multiple cellular processes, including muscle fiber membrane repair. This deficit has heterogeneous clinical presentations. In this study, we collected 20 Tunisian patients with a sex ratio of 1 and a median age of 50.5 years old (Interquartile range (IQR) = [36,5-54,75]). They were followed for periods ranging from 5 to 48 years. The median age at onset was 17 years old (IQR = [16,8-28,4]). Five major phenotypes were identified: Limb-girdle muscular dystrophy (LGMDR2) (35%), a proximodistal phenotype (35%), Miyoshi myopathy (10%), Distal myopathy with anterior tibial onset (DMAT) (10%), and asymptomatic HyperCKemia (10%). At the last evaluation, more than half of patients (55%) were on wheelchair. Loss of ambulation occurred generally during the fourth decade. After 20 years of disease progression, two patients with a proximodistal phenotype (10%) developed dilated cardiomyopathy and mitral valve regurgitation. Restrictive respiratory syndrome was observed in three patients (DMAT: 1 patient, proximodistal phenotype: 1 patient, LGMDR2: 1 patient). Genetic study disclosed five mutations. We observed clinical heterogeneity between families and even within the same family. Disease progression was mainly slow to intermediate regardless of the phenotype.
Asunto(s)
Miopatías Distales , Distrofia Muscular de Cinturas , Humanos , Persona de Mediana Edad , Pronóstico , Túnez/epidemiología , Proteínas de la Membrana/genética , Proteínas Musculares/genética , Distrofia Muscular de Cinturas/genética , Distrofia Muscular de Cinturas/metabolismo , Disferlina/genética , Miopatías Distales/genética , Progresión de la Enfermedad , Mutación , Antecedentes GenéticosRESUMEN
ABSTRACT: We report a 5-year-old boy who presented with progressive weakness in 4 limbs and gait disorders over 7 months. No skin rash was observed on admission. A symmetrical proximodistal weakness was found. The creatine kinase level was normal with a slightly elevated lactate dehydrogenase level. Biopsy specimens showed infiltration of mononuclear cells, few necrotic fibers, and perifascicular atrophy. Screening for myositis-specific antibodies was positive for the antinuclear matrix protein 2 antibody, which is mainly associated with dermatomyositis. Symptoms improved on receiving corticosteroids. Our findings suggest that in cases where inflammatory muscle disease is suspected, antinuclear matrix protein 2 antibody analyses should be considered for precise diagnosis, even with the absence of dermatological symptoms. The case suggests consideration of juvenile dermatomyositis in children with no associated skin manifestations or elevated creatine kinase levels and highlights the importance of screening for myositis-specific antibodies in helping with the diagnosis, given the possible heterogeneity of its clinical presentations.